Genomics of rare genetic diseases—experiences from India

S Sivasubbu, V Scaria - Human genomics, 2019 - Springer
Home to a culturally heterogeneous population, India is also a melting pot of genetic
diversity. The population architecture characterized by multiple endogamous groups with …

An evolutionary perspective on the impact of genomic copy number variation on human health

M Saitou, O Gokcumen - Journal of molecular evolution, 2020 - Springer
Copy number variants (CNVs), deletions and duplications of segments of DNA, account for
at least five times more variable base pairs in humans than single-nucleotide variants …

APOBEC3 deletion polymorphism is associated with breast cancer risk among women of European ancestry

D Xuan, G Li, Q Cai, S Deming-Halverson… - …, 2013 - academic.oup.com
Copy number variations occur frequently in the genome and are a significant source of
human genetic variation accounting for disease. Recently, we discovered a common …

Population-genetic properties of differentiated copy number variations in cattle

L Xu, Y Hou, DM Bickhart, Y Zhou, EHA Hay, J Song… - Scientific reports, 2016 - nature.com
While single nucleotide polymorphism (SNP) is typically the variant of choice for population
genetics, copy number variation (CNV) which comprises insertion, deletion and duplication …

Spatio-temporal dynamics of intra-host variability in SARS-CoV-2 genomes

AK Pathak, GP Mishra, B Uppili, S Walia… - Nucleic Acids …, 2022 - academic.oup.com
During the course of the COVID-19 pandemic, large-scale genome sequencing of SARS-
CoV-2 has been useful in tracking its spread and in identifying variants of concern (VOC) …

[HTML][HTML] The 30 kb deletion in the APOBEC3 cluster decreases APOBEC3A and APOBEC3B expression and creates a transcriptionally active hybrid gene but does not …

K Klonowska, W Kluzniak, B Rusak, A Jakubowska… - Oncotarget, 2017 - ncbi.nlm.nih.gov
APOBEC3B, in addition to other members of the APOBEC3 gene family, has recently been
intensively studied due to its identification as a gene whose activation in cancer is …

Ayurgenomics for stratified medicine: TRISUTRA consortium initiative across ethnically and geographically diverse Indian populations

B Prasher, B Varma, A Kumar, BK Khuntia… - Journal of …, 2017 - Elsevier
Background Genetic differences in the target proteins, metabolizing enzymes and
transporters that contribute to inter-individual differences in drug response are not integrated …

Ethnic and functional differentiation of copy number polymorphisms in Tunisian and HapMap population unveils insights on genome organizational plasticity

L Romdhane, S Kefi, N Mezzi, N Abassi, H Jmel… - Scientific Reports, 2024 - nature.com
Admixture mapping has been useful in identifying genetic variations linked to phenotypes,
adaptation and diseases. Copy number variations (CNVs) represents genomic structural …

Role of APOBEC3F Gene Variation in HIV-1 Disease Progression and Pneumocystis Pneumonia

P An, S Penugonda, CW Thorball, I Bartha… - PLoS …, 2016 - journals.plos.org
Human APOBEC3 cytidine deaminases are intrinsic resistance factors to HIV-1. However,
HIV-1 encodes a viral infectivity factor (Vif) that degrades APOBEC3 proteins. In vitro …

Frequency spectrum of rare and clinically relevant markers in multiethnic Indian populations (ClinIndb): A resource for genomic medicine in India

A Narang, B Uppilli, A Vivekanand, S Naushin… - Human …, 2020 - Wiley Online Library
There have been concerted efforts toward cataloging rare and deleterious variants in
different world populations using high‐throughput genotyping and sequencing‐based …